Progressive anomia revisited: focal degeneration associated with progranulin gene mutation.

Authors:
Dr Anoop Varma, MD (Medicine), DM, CCST, FRCP, MD (Manchester)
Dr Anoop Varma, MD (Medicine), DM, CCST, FRCP, MD (Manchester)
University of Manchester
Senior Consultant
Neurology
Manchester, Gtr Manchester | United Kingdom

Neurocase 2007 Oct;13(5):366-77

School of Translational Medicine, University of Manchester, Hope Hospital, Salford, UK.

In 2003 we reported a case study of a patient, Newton who presented with a progressive circumscribed anomia in association with focal left hemisphere atrophy. Remarkably, he could spell aloud the names of objects that he could not name, indicating dissociated access to phonology and orthography. We now present follow-up clinical data, post-mortem histopathological findings, and results of molecular genetic analysis. Newton showed tau-negative ubiquitin-positive histology consistent with frontotemporal lobar degeneration (FTLD) and a mutation in the progranulin (PGRN) gene. The case exemplifies the heterogeneity of clinical expression of FTLD and contributes to understanding of primary progressive aphasia.

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http://dx.doi.org/10.1080/13554790701851510DOI Listing
October 2007
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